Variant report

Variant	rs34516173
Chromosome Location	chr2:98338525-98338526
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr2:98338472-98338531	GM20000	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:98326581..98329549-chr2:98337971..98340144,2	MCF-7	breast:
2	chr2:98337153..98339163-chr2:98339968..98342288,2	K562	blood:
3	chr2:98336485..98339120-chr2:98342439..98345883,3	K562	blood:

Variant related genes	Relation type
ZAP70	TF binding region
ENSG00000115085	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs12999616	1.00[ASN][1000 genomes]
rs17489259	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2309149	1.00[ASN][1000 genomes]
rs34250439	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs34635139	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs35263587	0.84[AMR][1000 genomes]
rs35358137	0.81[AMR][1000 genomes]
rs35760941	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs35958372	1.00[ASN][1000 genomes]
rs57875000	1.00[ASN][1000 genomes]
rs58738348	1.00[ASN][1000 genomes]
rs72493438	1.00[ASN][1000 genomes]
rs72493444	1.00[ASN][1000 genomes]
rs72493445	1.00[ASN][1000 genomes]
rs72949064	1.00[ASN][1000 genomes]
rs7563002	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531382	chr2:98250628-98457616	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv874696	chr2:98309882-98362907	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	esv33510	chr2:98317103-98341302	Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs34516173	FAHD2B	cis	Muscle Skeletal	GTEx

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:98332000-98340000	Weak transcription	Esophagus	oesophagus
2	chr2:98333600-98341800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr2:98335000-98344800	Weak transcription	Right Atrium	heart
4	chr2:98335600-98338800	Weak transcription	Right Ventricle	heart
5	chr2:98336000-98339200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
6	chr2:98336000-98339600	Weak transcription	Fetal Muscle Trunk	muscle
7	chr2:98336000-98339800	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
8	chr2:98336000-98340400	Weak transcription	Spleen	Spleen
9	chr2:98336000-98344400	Weak transcription	Duodenum Mucosa	Duodenum
10	chr2:98336000-98346000	Genic enhancers	Primary T helper cells fromperipheralblood	blood
11	chr2:98336200-98345000	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
12	chr2:98336200-98345600	Genic enhancers	Primary T cells fromperipheralblood	blood
13	chr2:98336200-98345800	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
14	chr2:98336200-98351200	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr2:98336400-98340200	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
16	chr2:98336400-98345000	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr2:98336400-98346000	Genic enhancers	Primary T helper cells PMA-I stimulated	--
18	chr2:98336400-98361400	Weak transcription	Primary B cells from cord blood	blood
19	chr2:98336600-98346200	Weak transcription	Primary hematopoietic stem cells	blood
20	chr2:98336600-98346200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr2:98336600-98358800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr2:98337400-98338600	Enhancers	Primary T killer memory cells from peripheral blood	blood
23	chr2:98337400-98343800	Strong transcription	Fetal Thymus	thymus
24	chr2:98337400-98346600	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr2:98337600-98338800	Weak transcription	Thymus	Thymus
26	chr2:98337600-98339600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr2:98337800-98340000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
28	chr2:98337800-98343200	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr2:98337800-98357400	Strong transcription	Dnd41	blood
30	chr2:98338000-98338600	Strong transcription	Primary T cells from cord blood	blood
31	chr2:98338000-98339200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr2:98338000-98339800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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